Human Gene LAS1L (ENST00000374811.8)
  Description: Homo sapiens LAS1 like ribosome biogenesis factor (LAS1L), transcript variant 1, mRNA. (from RefSeq NM_031206)
Gencode Transcript: ENST00000374811.8
Gencode Gene: ENSG00000001497.18
Transcript (Including UTRs)
   Position: hg38 chrX:65,512,582-65,534,787 Size: 22,206 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg38 chrX:65,512,775-65,534,715 Size: 21,941 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
Genomic Sequence (chrX:65,512,582-65,534,787)mRNA (may differ from genome)Protein (734 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Ribosomal biogenesis protein LAS1L; AltName: Full=Protein LAS1 homolog;
FUNCTION: Involved in the biogenesis of the 60S ribosomal subunit. Required for maturation of the 28S rRNA.
SUBUNIT: Component of some MLL1/MLL complex, at least composed of the core components MLL, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components C17orf49, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10.
INTERACTION: Q96T60:PNKP; NbExp=1; IntAct=EBI-1051591, EBI-1045072;
SUBCELLULAR LOCATION: Nucleus, nucleolus. Note=localizes mainly to the granular component, the region implicated in the later steps of rRNA processing and subunit assembly and export.
SIMILARITY: Belongs to the LAS1 family.
SEQUENCE CAUTION: Sequence=BAB84913.1; Type=Erroneous initiation;

-  MalaCards Disease Associations
  MalaCards Gene Search: LAS1L
Diseases sorted by gene-association score: wilson-turner syndrome* (1350), spinal muscular atrophy with respiratory distress type 2* (350), intellectual disability (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 43.20 RPKM in Brain - Cerebellum
Total median expression: 608.54 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -26.5072-0.368 Picture PostScript Text
3' UTR -52.90193-0.274 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007174 - Las1

Pfam Domains:
PF04031 - Las1-like

ModBase Predicted Comparative 3D Structure on Q9Y4W2
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding

Biological Process:
GO:0000460 maturation of 5.8S rRNA
GO:0000470 maturation of LSU-rRNA
GO:0000478 endonucleolytic cleavage involved in rRNA processing
GO:0006325 chromatin organization
GO:0006364 rRNA processing

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0016020 membrane
GO:0030687 preribosome, large subunit precursor
GO:0071339 MLL1 complex

-  Descriptions from all associated GenBank mRNAs
  KJ906346 - Synthetic construct Homo sapiens clone ccsbBroadEn_16016 LAS1L gene, encodes complete protein.
AK225059 - Homo sapiens mRNA for Splice isoform 2 of Q9Y4W2 variant, clone: CAE03734.
AF116730 - Homo sapiens MSTP060 mRNA, complete cds.
BC019302 - Homo sapiens LAS1-like (S. cerevisiae), mRNA (cDNA clone MGC:4197 IMAGE:2822893), complete cds.
BC018610 - Homo sapiens LAS1-like (S. cerevisiae), mRNA (cDNA clone MGC:15569 IMAGE:3140243), complete cds.
AK127207 - Homo sapiens cDNA FLJ45274 fis, clone BRHIP3000626.
AK125760 - Homo sapiens cDNA FLJ43772 fis, clone TESTI2049576, highly similar to LAS1-like protein.
AK054817 - Homo sapiens cDNA FLJ30255 fis, clone BRACE2002444, highly similar to LAS1-like protein.
AK022587 - Homo sapiens cDNA FLJ12525 fis, clone NT2RM4000030, weakly similar to LAS1 PROTEIN.
AK097383 - Homo sapiens cDNA FLJ40064 fis, clone TESOP2000312, highly similar to LAS1-like protein.
AK074087 - Homo sapiens mRNA for FLJ00158 protein.
BC014545 - Homo sapiens LAS1-like (S. cerevisiae), mRNA (cDNA clone MGC:13524 IMAGE:4079376), complete cds.
JD206770 - Sequence 187794 from Patent EP1572962.
JD519879 - Sequence 500903 from Patent EP1572962.
AK129496 - Homo sapiens cDNA FLJ25985 fis, clone CBR04040.
AK295591 - Homo sapiens cDNA FLJ55066 complete cds, highly similar to LAS1-like protein.
DQ323626 - Homo sapiens clone 35 Las1-like mRNA, partial cds.
DQ323624 - Homo sapiens clone 33 Las1-like mRNA, partial cds.
DQ323625 - Homo sapiens clone 34 Las1-like mRNA, partial cds, alternatively spliced.
CU677041 - Synthetic construct Homo sapiens gateway clone IMAGE:100017475 5' read LAS1L mRNA.
JD137131 - Sequence 118155 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y4W2 (Reactome details) participates in the following event(s):

R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol
R-HSA-8868773 rRNA processing in the nucleus and cytosol
R-HSA-72312 rRNA processing
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: A9X410, ENST00000374811.1, ENST00000374811.2, ENST00000374811.3, ENST00000374811.4, ENST00000374811.5, ENST00000374811.6, ENST00000374811.7, LAS1L_HUMAN, MSTP060, NM_031206, Q5JXQ0, Q8TEN5, Q9H9V5, Q9Y4W2, uc004dwa.1, uc004dwa.2, uc004dwa.3, uc004dwa.4
UCSC ID: ENST00000374811.8
RefSeq Accession: NM_031206
Protein: Q9Y4W2 (aka LAS1L_HUMAN)
CCDS: CCDS14381.1, CCDS55434.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.